Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3842570
rs3842570
2 0.925 0.160 2 240594824 intron variant -/CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC delins 0.010 1.000 1 2014 2014
dbSNP: rs11466313
rs11466313
1 1.000 0.120 19 41355432 intron variant -/CTC;CTCATGTCCCTGCCCTCCCTCCTC delins 0.70 0.010 < 0.001 1 2015 2015
dbSNP: rs71361504
rs71361504
2 0.925 0.120 17 43125988 intron variant -/GTT delins 0.010 1.000 1 2018 2018
dbSNP: rs1158932956
rs1158932956
1 1.000 0.120 5 69168280 frameshift variant -/T ins 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs13429458
rs13429458
6 0.827 0.200 2 43411699 intron variant A/C snv 0.14 0.890 0.800 10 2011 2019
dbSNP: rs2272046
rs2272046
1 1.000 0.120 12 65830681 intron variant A/C snv 2.1E-02 0.810 1.000 2 2012 2018
dbSNP: rs10500204
rs10500204
3 0.882 0.160 19 7182952 intron variant A/C snv 0.25 0.010 < 0.001 1 2011 2011
dbSNP: rs12050732
rs12050732
1 1.000 0.120 15 66458277 intron variant A/C snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs316019
rs316019
8 0.790 0.360 6 160249250 missense variant A/C snv 0.90 0.89 0.010 1.000 1 2019 2019
dbSNP: rs34603401
rs34603401
4 0.882 0.280 1 9245386 missense variant A/C snv 0.12 0.10 0.010 1.000 1 2012 2012
dbSNP: rs628031
rs628031
8 0.807 0.280 6 160139813 missense variant A/C;G snv 5.3E-05; 0.63 0.010 1.000 1 2019 2019
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.060 1.000 6 2010 2019
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.030 0.667 3 2015 2019
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 < 0.001 1 2019 2019
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.020 1.000 2 2017 2018
dbSNP: rs10739076
rs10739076
1 1.000 0.120 9 5440589 upstream gene variant A/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs4449306
rs4449306
LPP
1 1.000 0.120 3 188234588 intron variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2479106
rs2479106
4 0.851 0.120 9 123762933 intron variant A/G snv 0.44 0.900 0.833 12 2011 2019
dbSNP: rs13405728
rs13405728
8 0.790 0.200 2 48751020 intron variant A/G snv 0.15 0.900 0.818 11 2011 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.900 10 2003 2019
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.050 0.600 5 2015 2019
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.040 0.750 4 2013 2019
dbSNP: rs2002555
rs2002555
1 1.000 0.120 12 53423453 upstream gene variant A/G snv 0.16 0.020 1.000 2 2008 2013
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.020 0.500 2 2018 2019